Novel and Recurrent Mutations in the Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Mutations in the fibroblast growth factor receptor 3 gene () cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the gene were PCR amplified and sequenced.